Canonical Allele Identifier: CA379782848

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17415841T>G (hg19) ; chr11:g.17394294T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17394294T>G , CM000673.2:g.17394294T>G	GRCh38
NC_000011.9:g.17415841T>G , CM000673.1:g.17415841T>G	GRCh37
NC_000011.8:g.17372417T>G	NCBI36
NG_008867.1:g.87609A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.4118A>C
ENST00000526037.6:n.452A>C
ENST00000528374.2:c.1108A>C
ENST00000529967.6:n.2856A>C
ENST00000532220.2:n.3750A>C
ENST00000642611.2:n.5850A>C
ENST00000644057.2:n.1093A>C
ENST00000645004.2:n.2016A>C
ENST00000682051.1:n.4679A>C
ENST00000682110.1:n.4732A>C
ENST00000682140.1:c.*303A>C	ENSP00000507829.1:n.*303A>C
ENST00000682185.1:n.5822A>C
ENST00000682204.1:c.*2655A>C	ENSP00000507094.1:n.*2655A>C
ENST00000682215.1:n.5099A>C
ENST00000682288.1:c.*2948A>C	ENSP00000507506.1:n.*2948A>C
ENST00000682442.1:n.4952A>C
ENST00000682528.1:n.4809A>C
ENST00000682673.1:n.4676A>C
ENST00000682805.1:n.5137A>C
ENST00000682965.1:c.*939A>C	ENSP00000508229.1:n.*939A>C
ENST00000683093.1:n.5712A>C
ENST00000683136.1:c.4400A>C	ENSP00000507768.1:p.Glu1467Ala
ENST00000683153.1:n.4774A>C
ENST00000683365.1:n.4834A>C
ENST00000683377.1:n.4628A>C
ENST00000683456.1:c.*1654A>C	ENSP00000508318.1:n.*1654A>C
ENST00000683522.1:n.4814A>C
ENST00000683562.1:c.*2582A>C	ENSP00000508265.1:n.*2582A>C
ENST00000683693.1:n.6193A>C
ENST00000683725.1:c.4413A>C	ENSP00000507496.1:p.Arg1471=
ENST00000684010.1:n.4727A>C
ENST00000684014.1:n.704A>C
ENST00000684157.1:n.5717A>C
ENST00000684253.1:n.4635A>C
ENST00000684288.1:c.*2689A>C	ENSP00000507143.1:n.*2689A>C
ENST00000684313.1:n.4164A>C
ENST00000684332.1:n.4805A>C
ENST00000684371.1:n.4838A>C
ENST00000684404.1:n.5760A>C
ENST00000684442.1:n.4956A>C
ENST00000684555.1:c.*2729A>C	ENSP00000507705.1:n.*2729A>C
ENST00000684571.1:c.4358A>C	ENSP00000506935.1:p.Glu1453Ala
ENST00000684593.1:c.*4222A>C	ENSP00000507005.1:n.*4222A>C
ENST00000684711.1:c.*2913A>C	ENSP00000506841.1:n.*2913A>C
ENST00000302539.9:c.4520A>C	ENSP00000303960.4:p.Glu1507Ala
ENST00000389817.8:c.4517A>C MANE Select	ENSP00000374467.4:p.Glu1506Ala
ENST00000642271.1:c.4514A>C	ENSP00000493749.1:p.Glu1505Ala
ENST00000642579.1:c.2571A>C
ENST00000642611.1:n.5735A>C
ENST00000642902.1:c.4299A>C
ENST00000643260.1:c.4517A>C	ENSP00000494450.1:p.Glu1506Ala
ENST00000643562.1:c.*2639A>C	ENSP00000496124.1:n.*2639A>C
ENST00000643925.1:c.3157A>C
ENST00000644057.1:n.676A>C
ENST00000644484.1:c.*3903A>C	ENSP00000493558.1:n.*3903A>C
ENST00000644675.1:c.*2689A>C	ENSP00000494567.1:n.*2689A>C
ENST00000644757.1:c.*3203-1314A>C	ENSP00000495085.1:n.*3203-1314A>C
ENST00000644772.1:c.4583A>C	ENSP00000494321.1:p.Glu1528Ala
ENST00000645004.1:n.2210A>C
ENST00000645076.1:c.3612A>C
ENST00000645417.1:c.1705A>C
ENST00000645744.1:c.*4202A>C	ENSP00000494564.1:n.*4202A>C
ENST00000645760.1:c.4938A>C
ENST00000645884.1:c.*1800A>C	ENSP00000495516.1:n.*1800A>C
ENST00000646003.1:c.*2539A>C	ENSP00000495259.1:n.*2539A>C
ENST00000646207.1:c.*3354A>C	ENSP00000495025.1:n.*3354A>C
ENST00000646276.1:c.*3921A>C	ENSP00000496070.1:n.*3921A>C
ENST00000646592.1:c.3823A>C
ENST00000646902.1:c.4484A>C	ENSP00000494101.1:p.Glu1495Ala
ENST00000646993.1:c.*2955A>C	ENSP00000493720.1:n.*2955A>C
ENST00000647013.1:c.4523A>C	ENSP00000496741.1:n.4523A>C
ENST00000647015.1:c.4268A>C	ENSP00000495389.1:p.Glu1423Ala
ENST00000647086.1:c.*4103A>C	ENSP00000493677.1:n.*4103A>C
ENST00000647158.1:c.*2804A>C	ENSP00000495744.1:n.*2804A>C
ENST00000302539.8:c.4520A>C	ENSP00000303960.4:p.Glu1507Ala
ENST00000389817.7:c.4517A>C	ENSP00000374467.3:p.Glu1506Ala
ENST00000525022.1:n.412A>C
ENST00000526037.5:n.277A>C
ENST00000526168.5:c.305A>C
ENST00000531642.5:c.548A>C
NM_000352.4:c.4517A>C	NP_000343.2:p.Glu1506Ala
NM_001287174.1:c.4520A>C	NP_001274103.1:p.Glu1507Ala
XM_011520331.1:c.4517A>C	XP_011518633.1:p.Glu1506Ala
XM_011520332.1:c.4416A>C	XP_011518634.1:p.Arg1472=
XM_011520333.1:c.3017A>C	XP_011518635.1:p.Glu1006Ala
XR_930890.1:n.4479A>C
NM_001351295.1:c.4583A>C	NP_001338224.1:p.Glu1528Ala
NM_001351296.1:c.4517A>C	NP_001338225.1:p.Glu1506Ala
NM_001351297.1:c.4514A>C	NP_001338226.1:p.Glu1505Ala
NR_147094.1:n.4812A>C
XM_017018197.2:c.4586A>C	XP_016873686.1:p.Glu1529Ala
XM_017018199.1:c.4583A>C	XP_016873688.1:p.Glu1528Ala
XM_017018201.2:c.4482A>C	XP_016873690.1:p.Arg1494=
XM_017018202.1:c.3083A>C	XP_016873691.1:p.Glu1028Ala
XM_017018204.1:c.2474A>C	XP_016873693.1:p.Glu825Ala
XM_024448668.1:c.2885A>C	XP_024304436.1:p.Glu962Ala
XR_001747945.2:n.4554A>C
XR_001747946.2:n.4485A>C
XR_002957189.1:n.6268A>C
NM_000352.6:c.4517A>C MANE Select	NP_000343.2:p.Glu1506Ala
NM_001287174.2:c.4520A>C	NP_001274103.1:p.Glu1507Ala
NM_001351295.2:c.4583A>C	NP_001338224.1:p.Glu1528Ala
NM_001351296.2:c.4517A>C	NP_001338225.1:p.Glu1506Ala
NM_001351297.2:c.4514A>C	NP_001338226.1:p.Glu1505Ala
NR_147094.2:n.4812A>C
NM_001287174.3:c.4520A>C	NP_001274103.1:p.Glu1507Ala